Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768563000
rs768563000
LDLR
A 0.700 GeneticVariation CLINVAR Genetic identification of familial hypercholesterolemia within a single U.S. health care system. 28008010

2016
dbSNP: rs768563000
rs768563000
LDLR
A 0.700 GeneticVariation CLINVAR Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum. 25463123

2014
dbSNP: rs768563000
rs768563000
LDLR
A 0.700 GeneticVariation CLINVAR Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study. 24956927

2014
dbSNP: rs768563000
rs768563000
LDLR
A 0.700 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs768563000
rs768563000
LDLR
A 0.700 GeneticVariation CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003

2005
dbSNP: rs768563000
rs768563000
LDLR
A 0.700 GeneticVariation CLINVAR Evidence that familial hypercholesterolemia mutations of the LDL receptor cause limited local misfolding in an LDL-A module pair. 11052664

2000
dbSNP: rs768563000
rs768563000
LDLR
A 0.700 GeneticVariation CLINVAR Solution structure of the sixth LDL-A module of the LDL receptor. 10704205

2000
dbSNP: rs768563000
rs768563000
LDLR
A 0.700 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992